neuronopathy, distal hereditary motor, type 7A
Findings
No curated finding names neuronopathy, distal hereditary motor, type 7A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene.
Definition from the Mondo Disease Ontology (MONDO:0008024), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Increased jitter at single fiber EMGHPOHP:0030205
- 2 of 2 reported patients
- Abnormal motor nerve conduction velocityHPOHP:0040131
- 0 of 14 reported patients
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulationHPOHP:0003403
- 0 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC5A7HGNC:14025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2019
- Moderate · ClinGen · Autosomal dominant · 2026
Where it sits
Other names
2 names
Resolves to: neuronopathy, distal hereditary motor, type 7A
- Also called
- neuronopathy, distal hereditary motor caused by mutation in SLC5A7SLC5A7 neuronopathy, distal hereditary motor